Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15-Reference-Cited by-同舟云学术

Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15

Published:2021-05-27 Issue:10 Volume:185 Page:3092-3098
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Ueda Kimiko¹^ORCID,Ogawa Satoru²,Matsuda Keiko¹,Hasegawa Yuiko¹,Nishi Eriko¹^ORCID,Yanagi Kumiko³,Kaname Tadashi³^ORCID,Yamamoto Toshiyuki⁴,Okamoto Nobuhiko¹^ORCID

Affiliation:

1. Department of Medical Genetics Osaka Women's and Children's Hospital Osaka Japan

2. Department of Pediatrics Saiseikai Suita Hospital Osaka Japan

3. Department of Genome Medicine National Center for Child Health and Development Tokyo Japan

4. Institute of Medical Genetics Tokyo Women's Medical University Tokyo Japan

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62371

Reference18 articles.

1. Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield

2. Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

3. The EEG in early diagnosis of the Angelman (Happy Puppet) syndrome

4. Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality

5. Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15

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1. A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures;Journal of Human Genetics;2024-06-20

2. Regulation of MAPK Signaling Pathways by the Large HERC Ubiquitin Ligases;International Journal of Molecular Sciences;2023-03-03

3. The HERC proteins and the nervous system;Seminars in Cell & Developmental Biology;2021-11

4. Role of adaptin protein complexes in intracellular trafficking and their impact on diseases;Bioengineered;2021-01-01